Allele Registry

Canonical Allele Identifier: PA1139741972

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000000635

RCV000078518

ClinVar Variation:

604

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ile95del	CA251535 NM_001354304.2:c.284_286del